MAP2K1 Gene

The MAP2K1 gene (MAP2K1 stands for "Mitogen-Activated Protein Kinase Kinase 1") is a protein-coding gene located on chromosome15q22.31. The protein encoded by the MAP2K1 gene belongs to the family of protein kinases with dual specificity that act as mitogen-activated protein kinase (MAP kinase).

MAP kinases, also known as extracellular signal-regulated kinases (ERKs), function as integration points for multiple biochemical signals. The protein kinase MAP2K1 is located upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases in a variety of extracellular and intracellular signals. As an essential component of the MAP kinase signal transduction pathway, this kinase is involved in many cellular processes including proliferation, differentiation, transcriptional regulation, and development.

MAP2K1 is a dual-specific kinase known for its involvement in the ERK signaling pathway through activation of ERK1 and ERK2. Activating MAP2K1 mutations have been observed in a number of cancers including ovarian carcinoma, melanoma, and lung carcinoma. These activating mutations are generally found in the N-terminal negative regulatory region or the ATP-binding region of the N-terminal lobe. Inhibitors of MEK genes have been shown to inhibit tumor growth in these cases.

Diseases associated with MAP2K1 include:

the cardio-facio-cutaneous syndrome

and

the melorheostosis

1. Rauen KA (2016) Cardiofaciocutaneous syndrome. In: Adam MP, Mirzaa GM et al. editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle 1993-2022.